Incidental Mutation 'R0583:Cdk6'
ID 56499
Institutional Source Beutler Lab
Gene Symbol Cdk6
Ensembl Gene ENSMUSG00000040274
Gene Name cyclin dependent kinase 6
Synonyms Crk2
MMRRC Submission 038773-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0583 (G1)
Quality Score 95
Status Not validated
Chromosome 5
Chromosomal Location 3391485-3581008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3523183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 201 (D201G)
Ref Sequence ENSEMBL: ENSMUSP00000126024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042410] [ENSMUST00000165117]
AlphaFold Q64261
Predicted Effect probably damaging
Transcript: ENSMUST00000042410
AA Change: D201G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037925
Gene: ENSMUSG00000040274
AA Change: D201G

DomainStartEndE-ValueType
S_TKc 13 300 4.26e-100 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165117
AA Change: D201G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126024
Gene: ENSMUSG00000040274
AA Change: D201G

DomainStartEndE-ValueType
S_TKc 13 300 4.26e-100 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199396
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cyclin dependent kinase family of proteins that play important roles in the progression and regulation of the cell cycle. The encoded protein binds to a D-type cyclin to form an active kinase complex to regulate progression through the G1 phase of the cell cycle. Mice lacking the encoded protein exhibit thymic and splenic hypoplasia, and hematopoietic defects such as reduced number of megakaryocytes and erythrocytes. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display hematopoietic abnormalities affecting spleen and thymus size. Female body weight and fertility are also reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,926 (GRCm39) S483P probably benign Het
5730480H06Rik A G 5: 48,537,470 (GRCm39) H169R probably damaging Het
Actn1 T A 12: 80,245,803 (GRCm39) I127F probably damaging Het
Cadm3 T G 1: 173,168,738 (GRCm39) T277P probably benign Het
Cast T C 13: 74,861,797 (GRCm39) T629A probably damaging Het
Cblc C A 7: 19,526,486 (GRCm39) C201F probably benign Het
Ccdc154 T A 17: 25,387,398 (GRCm39) D375E possibly damaging Het
Cep95 T C 11: 106,705,449 (GRCm39) V478A probably benign Het
Ciita T C 16: 10,341,668 (GRCm39) probably null Het
Clec4e A G 6: 123,260,653 (GRCm39) F135S probably damaging Het
Cntn6 A G 6: 104,753,275 (GRCm39) D337G possibly damaging Het
Crlf3 A T 11: 79,950,107 (GRCm39) H174Q probably damaging Het
Cyb5r1 T A 1: 134,335,339 (GRCm39) F93I probably damaging Het
Dop1b T C 16: 93,552,374 (GRCm39) I271T probably benign Het
Duxf1 G A 10: 58,059,210 (GRCm39) L515F probably damaging Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Fhad1 C T 4: 141,631,301 (GRCm39) M1297I probably benign Het
Igdcc4 T C 9: 65,029,095 (GRCm39) V244A possibly damaging Het
Ikzf5 A G 7: 130,993,514 (GRCm39) probably null Het
Ilvbl T A 10: 78,419,101 (GRCm39) V450E probably damaging Het
Kcns3 T G 12: 11,141,479 (GRCm39) N407H probably damaging Het
Klhl11 T C 11: 100,355,150 (GRCm39) K224E possibly damaging Het
Klra17 T A 6: 129,845,656 (GRCm39) D186V probably damaging Het
Lrrc37a T C 11: 103,389,263 (GRCm39) D2054G probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Mrgbp A G 2: 180,226,239 (GRCm39) N104S probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Muc5ac C A 7: 141,361,345 (GRCm39) T1552N probably damaging Het
Muc5b T A 7: 141,410,435 (GRCm39) Y1269* probably null Het
Myef2 T C 2: 124,939,901 (GRCm39) probably null Het
Myg1 C T 15: 102,246,225 (GRCm39) Q367* probably null Het
Nalcn T C 14: 123,531,755 (GRCm39) N1365S possibly damaging Het
Nfu1 T C 6: 86,986,934 (GRCm39) C18R probably benign Het
Nkx2-6 A T 14: 69,412,228 (GRCm39) Q132L probably damaging Het
Or10a3b C T 7: 108,444,621 (GRCm39) A199T possibly damaging Het
Or8k38 T A 2: 86,488,704 (GRCm39) I33F probably benign Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Prh1 A T 6: 132,548,796 (GRCm39) Q101L unknown Het
Ribc2 A T 15: 85,017,115 (GRCm39) probably null Het
Rnf19a C A 15: 36,253,151 (GRCm39) R396L probably damaging Het
Sdad1 A G 5: 92,452,923 (GRCm39) I105T probably damaging Het
Sec24b G T 3: 129,834,960 (GRCm39) Y79* probably null Het
Tatdn2 A G 6: 113,679,486 (GRCm39) E277G possibly damaging Het
Tex10 A C 4: 48,451,952 (GRCm39) F725V probably damaging Het
Themis3 T C 17: 66,866,748 (GRCm39) D164G probably benign Het
Ubxn7 T C 16: 32,194,732 (GRCm39) W220R probably damaging Het
Usp33 C A 3: 152,073,891 (GRCm39) R246S probably damaging Het
Vmn2r102 T A 17: 19,897,043 (GRCm39) V130E probably benign Het
Vmn2r112 C T 17: 22,837,930 (GRCm39) P797L probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Yme1l1 T C 2: 23,076,262 (GRCm39) V340A probably damaging Het
Zfta A G 19: 7,397,639 (GRCm39) D62G probably damaging Het
Other mutations in Cdk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4737:Cdk6 UTSW 5 3,394,211 (GRCm39) start gained probably benign
R1474:Cdk6 UTSW 5 3,523,217 (GRCm39) missense probably benign 0.23
R1538:Cdk6 UTSW 5 3,570,675 (GRCm39) missense probably benign 0.02
R2104:Cdk6 UTSW 5 3,394,387 (GRCm39) missense probably benign 0.16
R3029:Cdk6 UTSW 5 3,440,817 (GRCm39) critical splice donor site probably null
R4886:Cdk6 UTSW 5 3,394,444 (GRCm39) missense possibly damaging 0.82
R4939:Cdk6 UTSW 5 3,394,377 (GRCm39) missense probably null 0.99
R5421:Cdk6 UTSW 5 3,523,120 (GRCm39) missense probably damaging 1.00
R5583:Cdk6 UTSW 5 3,394,436 (GRCm39) missense probably damaging 1.00
R6247:Cdk6 UTSW 5 3,394,553 (GRCm39) splice site probably null
R7014:Cdk6 UTSW 5 3,523,152 (GRCm39) missense probably damaging 1.00
R7102:Cdk6 UTSW 5 3,570,709 (GRCm39) missense probably damaging 1.00
R7288:Cdk6 UTSW 5 3,479,001 (GRCm39) missense probably benign
R8204:Cdk6 UTSW 5 3,394,461 (GRCm39) missense probably damaging 1.00
R8225:Cdk6 UTSW 5 3,440,790 (GRCm39) missense probably benign 0.23
R8261:Cdk6 UTSW 5 3,440,685 (GRCm39) missense probably benign 0.02
Z1176:Cdk6 UTSW 5 3,440,694 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- AATTTCCTGGCCTGTGGAGTCCTG -3'
(R):5'- GGGTCTTCCTTCACTAAAGAGGTGC -3'

Sequencing Primer
(F):5'- CATGTTGTTACCACGAGGTATAG -3'
(R):5'- GCTTCATGTTTACCAGTTAGGACAG -3'
Posted On 2013-07-11